Details for Gene KMT2C

GENE NAME KMT2C
CHROMOSOME 7
ENSEMBL ID None
ENTREZ ID ENSG00000055609
UNIPROT ACCESSION NUMBER Q8NEZ4
GO MOLECULAR FUNCTION ['DNA binding', 'histone binding', 'protein binding', 'RNA binding', 'transcription coactivator activity', 'histone methyltransferase activity (H3-K4 specific)', 'acyltransferase activity', 'metal ion binding', 'histone methyltransferase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa00310; hsa01100; R-HSA-1266738; R-HSA-212436; R-HSA-3214841; R-HSA-3247509; R-HSA-4839726; R-HSA-5617472; R-HSA-5619507; R-HSA-73857; R-HSA-74160; R-HSA-8878171; R-HSA-8936459
2 combinations linked to KMT2C OLI333; OLI1709
2 variants linked to KMT2C KMT2C:c.10432C>G, p.Gln3478Glu; KMT2C:c.2573G>T, p.Trp858Leu
2 diseases linked to KMT2C Rare pervasive developmental disorder; Amyotrophic lateral sclerosis

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